Details of Disease

General Information of Disease (ID: DISCI8IV)

Disease Name Gaucher disease type II
Synonyms
Gaucher disease, type 2; Gaucher disease, type II; Gaucher disease type 2; Gaucher disease, infantile cerebral; Gd 2; acute neuronopathic Gaucher disease; GD II; Gaucher disease, acute neuronopathic type; Gaucher's disease type II; Gaucher disease type II; infantile cerebral Gaucher disease
Definition
Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.
Disease Hierarchy
DISTW5JG: Gaucher disease
DISCI8IV: Gaucher disease type II
Disease Identifiers
MONDO ID
MONDO_0009266
MESH ID
D005776
UMLS CUI
C0268250
OMIM ID
230900
MedGen ID
78652
Orphanet ID
77260
SNOMED CT ID
12246008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CHIT1 TTDYX6T Strong Biomarker [1]
GBA1 TTCYHJ4 Strong Autosomal recessive [2]
SNCA TT08OSU Strong Biomarker [3]
GBA TT1B5PU Definitive Biomarker [4]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ACE OTDF1964 Strong Biomarker [5]
GBA1 OT0XMD63 Strong Autosomal recessive [2]
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References

1 Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring.Hum Mutat. 2007 Sep;28(9):866-73. doi: 10.1002/humu.20524.
2 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
3 A New Glucocerebrosidase Chaperone Reduces alpha-Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism. J Neurosci. 2016 Jul 13;36(28):7441-52.
4 Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.Lancet. 2019 Feb 23;393(10173):747-757. doi: 10.1016/S0140-6736(18)31940-8. Epub 2019 Jan 31.
5 Pulmonary hypertension in type 1 Gaucher's disease: genetic and epigenetic determinants of phenotype and response to therapy.Mol Genet Metab. 2002 Sep-Oct;77(1-2):91-8. doi: 10.1016/s1096-7192(02)00122-1.